Canonical Allele Identifier: CA380315392

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436851G>C (hg19) ; chr11:g.47415300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415300G>C , CM000673.2:g.47415300G>C	GRCh38
NC_000011.9:g.47436851G>C , CM000673.1:g.47436851G>C	GRCh37
NC_000011.8:g.47393427G>C	NCBI36
NG_017073.1:g.11806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1053G>C MANE Select	ENSP00000354689.4:p.Gln351His
ENST00000354884.8:c.1032G>C	ENSP00000346956.4:p.Gln344His
ENST00000362021.8:c.1053G>C	ENSP00000354689.4:p.Gln351His
ENST00000524886.1:n.311G>C
ENST00000524928.1:c.*1383G>C	ENSP00000437186.1:n.*1383G>C
ENST00000527829.1:n.413G>C
ENST00000533076.5:c.*50G>C	ENSP00000434290.1:n.*50G>C
NM_001128225.2:c.1053G>C	NP_001121697.1:p.Gln351His
NM_152264.4:c.1032G>C	NP_689477.2:p.Gln344His
XM_006718381.2:c.1077G>C	XP_006718444.1:p.Gln359His
XM_006718383.2:c.969G>C	XP_006718446.1:p.Gln323His
XM_006718384.2:c.*50G>C	XP_006718447.1:n.*50G>C
XM_006718385.2:c.*50G>C	XP_006718448.1:n.*50G>C
XM_011520466.1:c.1098G>C	XP_011518768.1:p.Gln366His
XM_011520467.1:c.1053G>C	XP_011518769.1:p.Gln351His
XM_011520468.1:c.1053G>C	XP_011518770.1:p.Gln351His
XM_011520469.1:c.990G>C	XP_011518771.1:p.Gln330His
XM_011520470.1:c.945G>C	XP_011518772.1:p.Gln315His
XR_242832.1:n.1438G>C
XR_428862.2:n.1113G>C
XR_428863.2:n.1109G>C
XR_930928.1:n.1134G>C
NM_001330245.1:c.*50G>C	NP_001317174.1:n.*50G>C
NR_134854.1:n.1294G>C
XM_006718381.3:c.1077G>C	XP_006718444.1:p.Gln359His
XM_006718383.3:c.969G>C	XP_006718446.1:p.Gln323His
XM_011520468.3:c.1053G>C	XP_011518770.1:p.Gln351His
XM_011520470.2:c.945G>C	XP_011518772.1:p.Gln315His
XM_017018540.2:c.1032G>C	XP_016874029.1:p.Gln344His
XM_017018541.2:c.924G>C	XP_016874030.1:p.Gln308His
XM_024448762.1:c.1182G>C	XP_024304530.1:p.Gln394His
XR_001748027.1:n.1253G>C
XR_001748028.1:n.1235G>C
XR_428862.3:n.1113G>C
XR_428863.3:n.1109G>C
XR_930928.2:n.1134G>C
NM_001128225.3:c.1053G>C MANE Select	NP_001121697.2:p.Gln351His
NM_001330245.2:c.*50G>C	NP_001317174.2:n.*50G>C
NM_152264.5:c.1032G>C	NP_689477.3:p.Gln344His